Table 3 of
Chen, Mol Vis 2013; 19:292-302. Table 3 of
Chen, Mol Vis 2013; 19:292-302.
Table 3. Polymorphisms detected in the study.
| Nucleotide change | Amino acid change | Status | Conser- vation | Computational prediction | Allele frequency in cases | Reported or SNP ID | ||
|---|---|---|---|---|---|---|---|---|
| Blosum62 | PolyPhen or Splice site | SIFT | ||||||
| c.43C>A | p.Q15K | Hetero | No | 5>1 | B | T | 1/386 | rs75414918 |
| c.321G>A | p.(S107=) | Hetero | NA | - | NC | - | 1/386 | rs117888848 |
| c.473G>A | p.S158N | Hetero/homo | No | 4>1 | B | T | 125/386 | rs7624750 |
| c.557–19T>C | - | Hetero/homo | NA | - | NC | - | 109/386 | rs3772393 |
| c.575C>T | p.A192V | Hetero | Yes | 4>0 | B | T | 9/386 | rs34307082 |
| c.624+13G>C | - | Hetero | NA | - | NC | - | 3/386 | this study |
| c.625–4T>A | - | Hetero | NA | - | NC | - | 1/386 | this study |
| c.870+4T>C | - | Hetero/homo | NA | - | NC | - | 12/386 | Liu Y et al. [41,42] |
| c.870+32T>C | - | Hetero/homo | NA | - | NC | - | 105/386 | Liu Y et al. [41,42] |
| c.871–9T>A | - | Hetero | NA | - | NC | - | 1/386 | this study |
| c.1177A>C | p.(R393=) | Hetero | NA | - | NC | - | 1/386 | rs149752576 |
| c.1608A>C | p.(A536=) | Hetero | NA | - | NC | - | 11/386 | rs78767626 |
| c.1770+16T>G | - | Hetero/homo | NA | - | NC | - | 27/386 | rs9831772 |
| c.1884A>G | p.(V628=) | Hetero | NA | - | NC | - | 9/386 | rs73069703 |
| c.1923G>A | p.(A641=) | Hetero | NA | - | NC | - | 3/386 | rs138114609 |
| c.2109T>C | p.(A703=) | Hetero/homo | NA | - | NC | - | 121/386 | rs9851685 |
| c.2276–128_2276–127insT | - | Hetero | NA | - | NC | - | 1/386 | this study |
| c.2808G>A | p.(A936=) | Hetero/homo | NA | - | NC | - | 35/386 | rs117475774 |
| c.2796C>T | p.(R932=) | Hetero | NA | - | NC | - | 8/386 | rs35540805 |
| c.2819–4A>G | - | Hetero | NA | - | NC | - | 2/386 | rs184273607 |
| c.2883+2T>C | - | Hetero | NA | - | NC | - | 1/386 | this study |